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Case Reports
. 1977 May 10;36(3):351-3.
doi: 10.1007/BF00446288.

Mosaic 45,x/47,xy,+18

F Serville, D Fontan, C Laurent, J M Cazauran, P Verger
Case Reports

Mosaic 45,x/47,xy,+18

F Serville et al. Hum Genet. .

Abstract

A poorly developed female infant with buphthalmia, Turner phenotype, and mental retardation is described. Blood culture revealed a 45,X/47,XY,+18 chromosomal mosaicism; fibroblast culture showed only 45,X cells. The baby was dead at 11 months. Post mortem examination exhibited an ovarian agenesis and a calcified aortic stenosis.

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References

    1. J Med Genet. 1974 Mar;11(1):101-4 - PubMed

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